Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1.000 | 0.040 | 22 | 32787803 | intron variant | C/T | snv | 0.77 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.882 | 0.120 | 2 | 203727298 | intron variant | G/A | snv | 0.76 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.040 | 5 | 83877774 | upstream gene variant | C/T | snv | 0.75 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
12 | 0.742 | 0.320 | 9 | 114790605 | synonymous variant | T/C | snv | 0.71 | 0.75 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
15 | 0.716 | 0.400 | 12 | 68157629 | intron variant | C/T | snv | 0.75 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
12 | 0.752 | 0.320 | 9 | 114806486 | upstream gene variant | A/G | snv | 0.74 | 0.800 | 1.000 | 1 | 2008 | 2008 | ||||
|
13 | 0.732 | 0.320 | 9 | 114806766 | upstream gene variant | T/C | snv | 0.74 | 0.710 | 1.000 | 2 | 2015 | 2018 | ||||
|
4 | 0.882 | 0.120 | 6 | 14719265 | intron variant | G/A | snv | 0.74 | 0.800 | 1.000 | 3 | 2012 | 2017 | ||||
|
1 | 5 | 172897975 | 3 prime UTR variant | G/A | snv | 0.73 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
10 | 0.763 | 0.200 | 9 | 114796423 | intron variant | C/T | snv | 0.73 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 11 | 19308167 | intron variant | G/A | snv | 0.72 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
|
21 | 0.689 | 0.360 | 4 | 38828729 | missense variant | A/G | snv | 0.73 | 0.72 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
193 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 0.020 | 1.000 | 2 | 2013 | 2016 | |||
|
4 | 0.882 | 0.280 | 19 | 17183487 | intron variant | C/T | snv | 0.70 | 0.020 | 1.000 | 2 | 2009 | 2010 | ||||
|
13 | 0.807 | 0.200 | 3 | 38725184 | missense variant | A/G | snv | 0.65 | 0.70 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
4 | 0.925 | 0.120 | 20 | 63712604 | intron variant | T/G | snv | 0.70 | 0.800 | 1.000 | 1 | 2008 | 2008 | ||||
|
16 | 0.716 | 0.280 | 19 | 50377484 | 5 prime UTR variant | T/C | snv | 0.70 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 11 | 87414396 | intergenic variant | A/G | snv | 0.69 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 20 | 32137845 | intron variant | A/G | snv | 0.69 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
108 | 0.508 | 0.800 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.69 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
119 | 0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 | 0.030 | 0.667 | 3 | 2014 | 2017 | ||||
|
9 | 0.776 | 0.240 | 21 | 33404389 | intron variant | A/G | snv | 0.69 | 0.700 | 1.000 | 2 | 2015 | 2017 | ||||
|
1 | 6 | 3263257 | intron variant | C/T | snv | 0.68 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
3 | 0.925 | 0.080 | 5 | 142153497 | 3 prime UTR variant | A/G | snv | 0.65 | 0.68 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
6 | 0.851 | 0.160 | 12 | 57472038 | missense variant | G/C | snv | 0.60 | 0.68 | 0.010 | < 0.001 | 1 | 2010 | 2010 |